Romans 5:3-5

"We can rejoice, too, when we run into problems or trials, for we know they help us develop endurance. And endurance develops strength of character and character strengthens our confident hope of salvation. And this hope will not lead to disapointment. For we know how dearly God loves us, because he has given us the Holy Spirit to fill our hearts with his love." Romans 5:3-5

Friday, 27 April 2012

An Answer

The human body is amazing.  It's complexity is truly beyond comprehension.  Just over TWO years ago Zach was diagnosed with Idiopathic Hypoparathyroidism
(Idiopathic is a fancy doctors word for "we don't have a clue").

 If you've been following this blog then you will remember that this winter we had Zach's blood tested to see what mutation he has and as it turns out, he has a NEW variant that's not been documented.  This prompted the Geneticist to analyse both mine and Perry's blood
to see if we genetically passed it to him.
Neither Perry or I carry the A784V variant that Zach has.
 "This result indicates that...this variant has arisen de nova in the child, providing support that
 A784V is a disease causing mutation."
I've come to the conclusion that the best part about Genetics is that
 there really is no right 
So, if you are lost and work here is done..... 

 Here is some Genetics 101
De Nova MutationAn alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents or in the fertilized egg itself

Disease causing mutationA gene alteration that causes or predisposes an individual
to a specific disease

More info...pretty amazing....

The first genome (a complete set of DNA) cost three billion dollars to sequence and took ten years – they can do one now for a couple thousand dollars in a few days. That means you can scan through the entire genome in any affected individual for mutated genes. The problem is we each carry hundreds of such mutations, making it difficult to recognise the ones that are really causing disease.

The solution is to sequence the DNA of large numbers of people with the same condition and see if the same genes pop up multiple times.  And that is where it gets interesting.  Zach has a NEW mutation that has not been documented. So although there are a few people with a mutation in the CASR gene, their mutations are in a different location than his.

Our bodies are so complex and each one so unique.

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